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Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate. 2015

Wei-Lien Chuang, and Joshua Pacheco, and Samantha Cooper, and Jonathan S Kingsbury, and John Hinds, and Pavlina Wolf, and Petra Oliva, and Joan Keutzer, and Gerald F Cox, and Kate Zhang
Genzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA.

Short-chain C6-sphingomyelin is an artificial substrate that was used in an acid sphingomyelinase activity assay for a pilot screening study of patients with Niemann-Pick disease types A and B. Using previously published multiplex and single assay conditions, normal acid sphingomyelinase activity levels (i.e. false negative results) were observed in two sisters with Niemann-Pick B who were compound heterozygotes for two missense mutations, p.C92W and p.P184L, in the SMPD1 gene. Increasing the sodium taurocholate detergent concentration in the assay buffer lowered the activity levels of these two patients into the range observed with other patients with clear separation from normal controls.

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